Fig. 2.

RORC^−/− patients display abnormal thymus size and TCRα rearrangement, in line with their mild T-cell lymphopenia with a complete absence of MAIT and type 1 NKT cells. (A) Chest CT scan of P4 at the age of 16 months, revealing right lung infiltrate and thymic hypoplasia. (B, C) PBMCs from WT, heterozygous family members or from RORC^−/− patients were analyzed for MAIT (B) and type 1 NKT (C) cell frequencies by flow cytometry. Each plot is representative of n=3 experiments. (D) Cell counts were performed on fresh blood samples from heterozygous family members (n=4) and RORC^−/− patients (n=3). Dotted lines indicate the normal ranges for each lymphocyte population per μL of blood, based on the results for healthy individuals tested at the Necker Hospital for Sick Children, Paris, France.